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Annals of Human Genetics
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3616
Papers 3627
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#1Yazun B. Jarrar (UJ: University of Jordan)H-Index: 4
#2Jae-Gook Shin (Inje University)H-Index: 40
Last. Su-Jun LeeH-Index: 13
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#1Edit BosnyákH-Index: 3
#2Emese TrájerH-Index: 2
Last. Márta SzmodisH-Index: 4
view all 8 authors...
The aim was to examine the association between the hypoxia-inducible factor-1alpha (HIF1A) gene and the guanine nucleotide binding protein beta polypeptide 3 (GNB3) gene polymorphisms and the endurance/power athlete status and relative aerobic capacity. Another goal of this study was to reveal the connection between GNB3, blood pressure (BP), body composition and body mass index (BMI). Two hundred thirty-eight people participated in this study: 148 elite athletes (men = 107, women = 41) and 90 c...
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#1Yan-Wei Sha (Boston Children's Hospital)H-Index: 8
#2Xiaoli Wei (Ha Tai: Xiamen University)H-Index: 1
Last. Zhi-Yong Ji (Boston Children's Hospital)H-Index: 6
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BACKGROUND: Multiple morphological abnormalities of the sperm flagella (MMAF) is one kind of severe asthenozoospermia, which is caused by dysplastic development of sperm flagella. In our study, we sought to investigate the novel gene mutations leading to severe asthenozoospermia and MMAF. METHODS AND MATERIALS: The patient's spermatozoa were tested by Papanicolaou staining and transmission electron microscopy. Whole exome sequencing was performed on the patient with severe asthenozoospermia and ...
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#1Emilie Gloaguen (French Institute of Health and Medical Research)H-Index: 1
#2Marie-Hélène Dizier (French Institute of Health and Medical Research)H-Index: 14
Last. Flavie Mathieu (French Institute of Health and Medical Research)H-Index: 26
view all 11 authors...
Most genome-wide association studies used genetic-model-based tests assuming an additive mode of inheritance, leading to underpowered association tests in case of departure from additivity. The general regression model (GRM) association test proposed by Fisher and Wilson in 1980 makes no assumption on the genetic model. Interestingly, it also allows formal testing of the underlying genetic model. We conducted a simulation study of quantitative traits to compare the power of the GRM test to the c...
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#1Wei ZhangH-Index: 2
Last. Yun LiuH-Index: 6
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The fatty acid amide hydrolase (FAAH) gene was involved in the modulation of reward and addiction pathophysiology of illicit drugs abuse, and its polymorphisms might be associated with risk of methamphetamine (METH) dependence. This study aimed to investigate the FAAH mRNA levels in peripheral blood mononuclear cells and plasma protein levels and to analyze the 385C/A polymorphism (rs324420) between METH-dependent patients and controls. The levels of FAAH mRNA in METH dependence were significant...
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#1Gunay AliyevaH-Index: 3
#2Chingiz AsadovH-Index: 2
Last. Eldar AbdulalimovH-Index: 2
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With the carrier rate of 4%-8.6%, beta-thalassemia is one of the most prevalent hereditary disorders in Azerbaijan. Taking into consideration the high frequency of beta-thalassemia as well as the occurrences of several other hemoglobinopathies, we conducted a large genotyping study to investigate the mutational background of common hemoglobinopathies in the country. Alpha- and beta-globin genes were evaluated in the carriers of mutations identified via hematological indices and hemoglobin fracti...
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#1Megan Wadon (Cardiff University)
#2Neena Modi (Imperial College London)H-Index: 41
Last. Michael O. Donovan (Cardiff University)H-Index: 122
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Preterm birth is associated with short physical, cognitive, and neuropsychiatric health. These sequelae, together with a rising preterm birth rate and increased survival, make prematurity a growing public health issue because of the increased number of individuals with impaired health throughout the life span. Although a major contribution to preterm birth comes from environmental factors, it is also modestly heritable. Little is known about the architecture of this genetic contribution. Studies...
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#1Leilei Wen (Anhui Medical University)H-Index: 5
#2Lu Liu (Anhui Medical University)H-Index: 4
Last. Yujun Sheng (Anhui Medical University)H-Index: 14
view all 12 authors...
Single-nucleotide polymorphisms (SNPs) in the UHRF gene have been shown to be associated with systemic lupus erythematosus (SLE) in European and Hong Kong Chinese, but statistically significant evidence for association has not been found in a mainland Han Chinese population. Therefore, we selected SNP rs13205210 located in UHRF1BP1 as a candidate association from our previously published genome-wide association study (GWAS) data of SLE (1,047 cases and 1,205 controls from a mainland Han Chinese ...
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#2Canan UnalH-Index: 1
Last. Ayse Nur CakarH-Index: 3
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AIM: To share the chorionic villus sampling (CVS) experience of a single surgeon in our institution. METHODS: This retrospective study consists of CVS cases performed between 2000 and 2018. A total of 66 types of indications were classified under two main categories, the screening group (SG) and the inherited disease group (IDG). The SG and IDG were compared in terms of clinical characteristics of the patients, Beksac obstetrics index (BOI), timing of CVS in terms of gestational week, and compli...
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